DESMOID TUMORS IN FAMILIAL ADENOMATOUS POLYPOSIS
DESMOID TUMORS IN FAMILIAL ADENOMATOUS POLYPOSIS
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DOI：
10.1136/gut.35.3.377
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发表时间：
1994-03-01
期刊：
影响因子：
24.5
通讯作者：
HAMILTON, SR
中科院分区：
文献类型：
--
作者：
GURBUZ, AK;GIARDIELLO, FM;HAMILTON, SR
韧带样瘤是一种罕见的良性纤维瘤性病变，可发生于家族性腺瘤性息肉病（FAP）患者，FAP是一种由生殖细胞腺瘤性息肉病（APC）基因突变引起的疾病。本研究探讨了FAP发生硬纤维瘤的风险、APC基因突变与硬纤维瘤形成的关系以及FAP合并硬纤维瘤的临床特征。825例FAP患者中有83例（10%）有韧带样瘤，其中49例（30%）有韧带样瘤。FA.P患者发生硬纤维瘤的绝对风险为2.56/1000人年，相对风险为一般人群的852倍。APC基因突变在有和无韧带样瘤的家族中相似。女性/男性比率为1.4（p=NS）。68%的腹部硬纤维瘤患者既往接受过腹部手术（55%在术后5年内发生）。硬纤维瘤患者的FAP家族成员的硬纤维瘤风险在一级亲属中为25%，在三级亲属中为8%。韧带样囊肿是FAP的一种相对常见的并发症，与手术创伤和家族聚集有关。硬纤维瘤的发育与特定的APC基因突变无关，也不主要见于女性。对于有硬纤维瘤家族史的FAP患者，应考虑在腹部手术后5年内进行化学预防治疗的研究。
Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli (APC) gene mutation. This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics of FAP patients with desmoids. Eighty three of 825 FAP patients (10%) from 49 of 161 kindreds (30%) had desmoids. The absolute risk of desmoids in FA.P patients was 2.56/1000 person years; comparative risk was 852 times the general population. APC gene mutations were similar in families with and without desmoids. The female/male ratio was 1.4 (p=NS). Previous abdominal surgery was noted in 68% of patients with abdominal desmoids (55% developed within five years postoperatively). Desmoid risk in FAP family members of a desmoid patient was 25% in first degree relatives v 8% in third degree relatives. Desmoids are a comparatively common complication of FAP associated with surgical trauma and familial aggregation. Desmoid development was not linked to specific APC gene mutations and was not found predominantly in women. Studies of chemopreventive therapy, given within five years after abdominal surgery, should be considered in FAP patients with a family history of desmoid disease.